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Human genetics

Targeted analysis of KRAS and CREBBP mutations uncovers a potential population-specific signature in thai patients with liver fluke-associated cholangiocarcinoma

Rehab Osman Taha, Wanna Chaijaroenkul, Papichaya Phompradit, Kesara Na-Bangchang

published 08 May 2026

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Genetic variants and polygenic risk scores associated with paroxysmal atrial fibrillation in the Japanese population

Megumi Shiomi, Yuki Nagata, Takeaki Sudo, Kentaro Takahashi, Chihiro Higuchi, Kensuke Ihara, Ken Asada, Yasuaki Tanaka, Yasuteru Yamauchi, Takeshi Sasaki, Hitoshi Hachiya, Yasushi Imai, Hideo Fujita, Tetsuo Sasano, Tetsushi Furukawa, Toshihiro Tanaka

published 04 May 2026

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Single-cell transcriptomics of bronchoalveolar lavage reveals divergent macrophage subpopulations and trajectories in interstitial lung disease

Lai-Ying Zhang, Peter C. Allen, Viviana P. Lutzky, Simon H. Apte, Penny L. Groves, Maxine E. Tan, Tharushi De Silva, Eleanor R. Spenceley, Rachael A. McCloy, Quan H. Nguyen, Joseph E. Powell, Daniel C. Chambers, Brendan J. O’Sullivan

published 29 Apr 2026

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Ten-year natural history of visual function in Japanese patients with Leber hereditary optic neuropathy: A retrospective cohort study

Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Ryoma Yasumoto, Hitoshi Ishikawa, Masato Wakakura

published 28 Apr 2026

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Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study

Åsa Schawlann Ølnes, Marianne Teigen, Thea Bismo Strøm, Erik Kristoffer Arnesen, Antoine Rimbert, Anne Elise Eggen, Katrine Bjune

published 20 Apr 2026

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Risk prediction for cardiovascular related diseases using PRS and EHR in the Framingham Heart Study

Taegun Kim, Jaeseung Song, Jong Wha J. Joo

published 17 Apr 2026

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Stage-specific screening reveals differential resilience response to cold stress in rice

Fahamida Akter, Partha S. Biswas, Abul Kalam Mohammad Aminul Islam, Mohammad Sharif Raihan, Md. Mizanur Rahman, Khandakar Md. Iftekharuddaula, Mohammad Rafiqul Islam, John Damien Platten

published 15 Apr 2026

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Genetic, clinical, and biochemical profiling of Gilbert syndrome in a Nepali cohort: High prevalence of the UGT1A1 c.-3279T>G polymorphism and correlation with hematological parameters

Pragya Gautam Ghimire, Prasanna Ghimire, Rajan Pande

published 13 Apr 2026

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Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study

Soo-Hyun Kim, Yunjung Choi, Hyung Jun Park, Ji-Man Hong, Young-Chul Choi

published 13 Apr 2026

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Genomic dissection of methane emission traits in cattle: A meta-GWAS and heritability analysis across populations

Sare Golpasand, Navid Ghavi Hossein-Zadeh, Shahrokh Ghovvati

published 10 Apr 2026

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Neurodevelopmental outcomes in preschool children with congenital heart defects: A case-control study using Ages & Stages Questionnaire

Simone Hansen, Cathrine Vedel, Jesper Steensberg, Gorm Greisen, Line Rode, Charlotte Kvist Ekelund, Niels Vejlstrup, Karin Sundberg, Olav Bjørn Petersen, Ditte S. Jørgensen

published 25 Mar 2026

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Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers

Maria Grazia De Iorio, Michele Polli, Sara Ghilardi, Stefano Frattini, Mara Bagardi, Alessandra Paganelli, Maria Cristina Cozzi, Kenza Seghrouchni, Paola Giuseppina Brambilla, Giulietta Minozzi

published 24 Mar 2026

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Bayesian variable selection for genome-wide association study of grain traits in rice

Rupam Basu, Sabyasachi Mukhopadhyay, Kaustubh Adhikari

published 17 Mar 2026

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